Variant report

Variant	rs193014979
Chromosome Location	chr2:33708927-33708928
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33708290..33711080-chr2:33714152..33717140,3	K562	blood:
2	chr2:33700002..33701535-chr2:33708828..33711417,2	K562	blood:

Variant related genes	Relation type
ENSG00000152689	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv873792	chr2:33682737-33715742	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv1829750	chr2:33704194-33740571	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1798854	chr2:33708860-33720009	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33703200-33709200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:33703600-33711800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:33703600-33715600	Weak transcription	Spleen	Spleen
4	chr2:33704800-33717600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:33705000-33710800	Enhancers	Fetal Heart	heart
6	chr2:33705000-33714000	Weak transcription	Right Ventricle	heart
7	chr2:33705200-33709400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr2:33705600-33709600	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr2:33705600-33710000	Weak transcription	Pancreas	Pancrea
10	chr2:33705800-33709000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:33705800-33709200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:33705800-33709600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr2:33706000-33709200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:33706000-33714400	Weak transcription	Right Atrium	heart
15	chr2:33706200-33709200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:33707400-33710600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr2:33707600-33709000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:33707600-33709200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:33708000-33709000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:33708000-33709600	Enhancers	Primary B cells from cord blood	blood
21	chr2:33708000-33713600	Weak transcription	Brain Hippocampus Middle	brain
22	chr2:33708600-33709000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:33708600-33709000	Enhancers	Left Ventricle	heart
24	chr2:33708600-33709000	Enhancers	Psoas Muscle	Psoas
25	chr2:33708600-33710400	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr2:33708600-33710600	Enhancers	Primary B cells from peripheral blood	blood
27	chr2:33708600-33710600	Enhancers	NHDF-Ad	bronchial
28	chr2:33708800-33709000	Enhancers	Fetal Muscle Trunk	muscle
29	chr2:33708800-33709000	Enhancers	Osteobl	bone
30	chr2:33708800-33710000	Enhancers	HSMMtube	muscle
31	chr2:33708800-33710400	Flanking Active TSS	GM12878-XiMat	blood

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